Supplementary Materials

Supplementary Material for:

The druggable genome and support for target identification and validation in drug development

Chris Finan, Anna Gaulton, Felix A. Kruger, R. Thomas Lumbers, Tina Shah, Jorgen Engmann, Luana Galver, Ryan Kelley, Anneli Karlsson, Rita Santos, John P. Overington,* Aroon D. Hingorani,* Juan P. Casas*

*Corresponding author. Email: jpo{at}md.catapult.org.uk (J.P.O.); a.hingorani{at}ucl.ac.uk (A.D.H.); jp.casas{at}ucl.ac.uk (J.P.C.)

Published 29 March 2017, Sci. Transl. Med. 9, eaag1166 (2017)
DOI: 10.1126/scitranslmed.aag1166

This PDF file includes:

  • Fig. S1. The distribution of sequence ontology functional consequences of GWAS significant variant associations (P ≤ 5 × 10−8).
  • Fig. S2. Number of protein-coding genes in LD region.
  • Fig. S3. Translational potential of GWAS disease associations across all MeSH root disease areas and mental disorders.
  • Fig. S4. Translational potential of GWAS biomarker associations with relevance to disease across all MeSH root disease areas and mental disorders.
  • Fig. S5. Density of variant coverage across the druggable genome in commercial genotyping arrays (directly typed variants).
  • Fig. S6. Density of variant coverage across the druggable genome in commercial genotyping arrays (directly typed and tagged variants).
  • Fig. S7. Directly typed variant coverage of druggable genes on commercial genotyping arrays expressed as a proportion of 1000 Genomes phase 3 variants (directly typed variants).
  • Fig. S8. Directly typed variant coverage of druggable genes on commercial genotyping arrays expressed as a proportion of 1000 Genomes phase 3 variants (directly typed and tagged variants).
  • Fig. S9. Criteria for manual evaluation of the concordance/discordance of GWAS phenotypes, drug indications, and side effects.
  • Fig. S10. Proportion of content in various commercial arrays mapped to the 1000 Genomes phase 3 set of variants.
  • Legend for table S1
  • Table S2. Pfam-A domain content in three tiers of druggable genes.
  • Table S3. Examples of mapping SNPs curated in the GWAS catalog to LD intervals containing targets of licensed and clinically used drugs.
  • Table S4. Summary of the physical properties of LD regions.

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Other Supplementary Material for this manuscript includes the following:

  • Table S1 (Microsoft Excel format). The druggable genome.

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